Incidental Mutation 'R2376:Pou4f2'
| ID |
248281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pou4f2
|
| Ensembl Gene |
ENSMUSG00000031688 |
| Gene Name |
POU domain, class 4, transcription factor 2 |
| Synonyms |
Pou4f-rs1, Brn-3b, Brn3b, Brn-3.2, mBrn3-3R |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2376 (G1)
|
| Quality Score |
101 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
79159639-79163274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 79162814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 74
(S74R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034115]
|
| AlphaFold |
Q63934 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000034115
AA Change: S74R
|
| SMART Domains |
Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: S74R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
POU
|
252 |
329 |
1.33e-51 |
SMART |
|
HOX
|
347 |
409 |
3.31e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,889,812 (GRCm39) |
V254E |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| Ankrd13d |
T |
A |
19: 4,322,623 (GRCm39) |
I350F |
possibly damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,414 (GRCm39) |
M232T |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,356,734 (GRCm39) |
V134A |
probably damaging |
Het |
| Catsperz |
A |
T |
19: 6,902,266 (GRCm39) |
L76H |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,941,658 (GRCm39) |
V17A |
probably benign |
Het |
| Hrob |
A |
G |
11: 102,141,542 (GRCm39) |
D14G |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,217,695 (GRCm39) |
|
probably null |
Het |
| Myh9 |
G |
T |
15: 77,667,617 (GRCm39) |
D605E |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,959,950 (GRCm39) |
A3515T |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,909 (GRCm39) |
K389R |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,430 (GRCm39) |
V2138I |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,654,573 (GRCm39) |
M798K |
possibly damaging |
Het |
| Rhag |
G |
T |
17: 41,122,254 (GRCm39) |
|
probably null |
Het |
| Utp6 |
C |
G |
11: 79,846,439 (GRCm39) |
E181Q |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,529 (GRCm39) |
Q1144K |
possibly damaging |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,785 (GRCm39) |
V47D |
probably damaging |
Het |
|
| Other mutations in Pou4f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Pou4f2
|
APN |
8 |
79,161,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01578:Pou4f2
|
APN |
8 |
79,162,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02750:Pou4f2
|
APN |
8 |
79,161,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Pou4f2
|
UTSW |
8 |
79,162,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Pou4f2
|
UTSW |
8 |
79,161,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1328:Pou4f2
|
UTSW |
8 |
79,162,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1680:Pou4f2
|
UTSW |
8 |
79,161,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Pou4f2
|
UTSW |
8 |
79,162,067 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4770:Pou4f2
|
UTSW |
8 |
79,163,030 (GRCm39) |
missense |
unknown |
|
|
R4771:Pou4f2
|
UTSW |
8 |
79,161,865 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5288:Pou4f2
|
UTSW |
8 |
79,162,958 (GRCm39) |
missense |
unknown |
|
|
R5395:Pou4f2
|
UTSW |
8 |
79,161,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Pou4f2
|
UTSW |
8 |
79,163,020 (GRCm39) |
missense |
unknown |
|
|
R6036:Pou4f2
|
UTSW |
8 |
79,162,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6036:Pou4f2
|
UTSW |
8 |
79,162,103 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6883:Pou4f2
|
UTSW |
8 |
79,162,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7300:Pou4f2
|
UTSW |
8 |
79,162,735 (GRCm39) |
splice site |
probably null |
|
|
R7820:Pou4f2
|
UTSW |
8 |
79,163,131 (GRCm39) |
start gained |
probably benign |
|
|
R7983:Pou4f2
|
UTSW |
8 |
79,161,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8944:Pou4f2
|
UTSW |
8 |
79,161,932 (GRCm39) |
missense |
|
|
|
R9171:Pou4f2
|
UTSW |
8 |
79,162,748 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Pou4f2
|
UTSW |
8 |
79,162,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pou4f2
|
UTSW |
8 |
79,161,809 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGACCCGTTGAATACTTAAG -3'
(R):5'- AACAGCAAGCAGGCGTTCAG -3'
Sequencing Primer
(F):5'- CCCGTTGAATACTTAAGAGAGGG -3'
(R):5'- GTTCAGCATGCCTCACGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation